Pulmonary involvement in Gaucher disease

Farias, Lucas de Pádua Gomes de; Padilha, Igor Gomes; Santos, Carla J.; Maranhão, Carol Pontes de Miranda; Miranda, Christiana Maia Nobre Rocha de

doi:10.1590/0100-3984.2016.0081

Cited by 6 publications

(7 citation statements)

References 7 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In contrast, Sherif et al, described pulmonary involvement in all types of GD, however, homozygous L483P had more significant pulmonary involvement. Similarly, de Farias et al found that subjects homoallelic for the L483P mutation had more frequent GD intrinsic pulmonary involvement than patients with other genotypes.…”

Section: Discussionmentioning

confidence: 89%

“…In the literature, the radiological presentation of GD is heterogeneous with multiple patterns of tissue infiltration by Gaucher cells . Several pathophysiological mechanisms are suggested for pulmonary involvement in GD.…”

Section: Introductionmentioning

confidence: 99%

“…Furthermore, some cases were described with pulmonary fibrosis, miliary pattern, and hilar or mediastinal lymphadenopathy. This heterogenous presentation in GD patients indicates that it is a systemic disease …”

Section: Introductionmentioning

confidence: 99%

“…6 In the literature, the radiological presentation of GD is heterogeneous with multiple patterns of tissue infiltration by Gaucher cells. 7 Several pathophysiological mechanisms are suggested for pulmonary involvement in GD. Patients with GD can develop thickening of the interlobular and intralobular septa, alveolar opacities, capillary plugging by Gaucher cells, interstitial opacities, and recurrent chest infections.…”

Section: Introductionmentioning

confidence: 99%

“…This heterogenous presentation in GD patients indicates that it is a systemic disease. 7 Lung involvement was described in type II and III (neuropathic forms). There is a higher risk of pulmonary involvement in patients of GD who is homozygous for the L483P mutation.…”

Section: Introductionmentioning

confidence: 99%

See 4 more Smart Citations

Pulmonary manifestations in young Gaucher disease patients: Phenotype‐genotype correlation and radiological findings

Tantawy

Adly

Madkour

et al. 2019

Pediatric Pulmonology

View full text Add to dashboard Cite

Background Although pulmonary involvement is important orbidity in Gaucher disease (GD), it is previously reported to be rare. Moreover, no epidemiological studies described its prevalence specifically in children. The clinical spectrum and risk determinants for this complication and its long‐term response to therapy are unknown. Aim To assess the prevalence of clinical and radiological pulmonary involvement in pediatric GD patients and its relation to Gaucher severity and genotype. Methods Forty‐eight GD patients were studied focusing on pulmonary and neurological manifestations with assessment of severity scoring index (SSI; a Gaucher specific scale). Detailed enzyme replacement therapy (ERT) history was taken regarding dose, duration, and effect on pulmonary manifestations. Genotype was performed to 30 patients. Radiological investigations included plain chest‐radiography (CXR), high‐resolution CT (HRCT), and hepatic and splenic volumes. Results Fifteen patients had type 1 (31.2%) and 33 patients had type 3 GD (68.8%). The most common mutation was L483P detected in 25 patients (83.3%). Sixteen patients had recurrent chest wheeze (33%). CXR showed pulmonary findings in 17 patients (35.4%) while HRCT‐chest showed affection in 31 patients (64.6%). The ground‐glass pattern was present in 14 patients (29.1%), reticulonodular infiltration in 9 patients (18.8%), air trapping in 6 patients (12.5%), and bronchiectatic changes in two patients (4.2%). Univariate logistic regression analysis for predictors of abnormal HRCT‐chest was negatively correlated with platelets (P = .01) and hemoglobin (P = .018) and positively correlated with recurrent chest wheezing (P = .019), abnormal CXR (P = .007), and SSI (P = .009). Conclusion Pulmonary involvement is a prevalent morbidity of GD with variable presentations. CXR for early detection of pulmonary involvement in GD is safe and highly predictive.

show abstract

Section: Discussionmentioning

confidence: 89%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Pulmonary manifestations in young Gaucher disease patients: Phenotype‐genotype correlation and radiological findings

Tantawy

Adly

Madkour

et al. 2019

Pediatric Pulmonology

View full text Add to dashboard Cite

show abstract

Diagnosis and management of patients with Gaucher disease: an Egyptian expert opinion

El-Beshlawy,

Tantawy,

Shawky

et al. 2024

Egypt J Med Hum Genet

View full text Add to dashboard Cite

Background Gaucher disease (GD), an autosomal recessive, lysosomal storage disorder, is caused due to mutations in the glucocerebrosidase (GBA) gene. GD can occur at any age and is classified as type 1 (non-neurologic), type 2 (infantile form, with acute early neurologic manifestation), and type 3 (subacute/chronic neuropathic form). The rarity of the disease and its overlapping symptoms with other diseases increase the delay in diagnosis. The Egyptian cohort of patients with GD is specifically different regarding the prevalence of type 3 as well as the severity and progression of the disease. The unavailability of precise diagnostic tests and lack of awareness among clinicians are the current challenges associated with diagnosing and managing GD in Egypt. Method An expert panel meeting was convened with 19 experts from Egypt to address the current unmet challenges in the diagnosis and management of GD from the region and to develop country-specific diagnostic algorithms based on the existing literature for pediatric and adult groups. In addition, management strategies and preventive measures were also discussed. Result The algorithms presented in this review can be implemented in clinical practice for the timely diagnosis of patients with GD in Egypt. Early diagnosis is crucial in selecting the best treatment for patients with GD, and evidence suggests that early initiation of therapy can result in better outcomes. Conclusion The evidence-based expert opinion presented in this review will help clinicians in the early initial diagnosis of GD in Egypt, leading to appropriate management of the disease.

show abstract

Two cases of neuronopathic form of Gaucher disease – diagnostic difficulties

2021

View full text Add to dashboard Cite

Background: Gaucher disease is one of the most common inherited lysosomal storage diseases caused by the deficiency of the enzyme β-glucocerebrosidase, leading to the accumulation of glucocerebroside. Depending on the clinical manifestations, two different forms of the disease are distinguished – the non-neuronopathic form (type 1) with a variety of presentations – from asymptomatic to symptomatic patients (characterized by hepatosplenomegaly, thrombocytopenia, anemia and osteopenia), and the neuronopathic form (known as types 2 and 3). Besides visceral, osseous, and hematopoietic organ lesions, neuronopathic forms are associated with central nervous system involvement (bulbar and pyramidal signs, horizontal saccadic eye movements, myoclonic epilepsy, progressive development delay). In type 2, the neurological symptoms appear earlier and are more severe, the survival time is shorter. In type 3, the neurological symptoms are milder and allow patients to live a fully productive life. Case presentation: This article includes a review of two cases of neuronopathic Gaucher disease: type 2 and severe type 3. Both patients presented symptoms during infancy and the manifestations were similar but varied in intensity and the dynamics of progress. Enzyme replacement therapy was started in both cases, which decreased visceral symptoms. Conclusions: Both described cases indicate the lack of knowledge and the tendency of doctors to disregard the possibility of Gaucher disease in their paediatrics patients.

show abstract

Pulmonary involvement in Gaucher disease

Cited by 6 publications

References 7 publications

Pulmonary manifestations in young Gaucher disease patients: Phenotype‐genotype correlation and radiological findings

Pulmonary manifestations in young Gaucher disease patients: Phenotype‐genotype correlation and radiological findings

Diagnosis and management of patients with Gaucher disease: an Egyptian expert opinion

Two cases of neuronopathic form of Gaucher disease – diagnostic difficulties

Contact Info

Product

Resources

About